Linked Data
ClinVar Variation Id:
1628006
ClinVar RCV Id:
RCV002123325
dbSNP Id:
rs1557020294
gnomAD v3:
X-48792310-T-C
gnomAD v4:
X-48792310-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48792310T>C , CM000685.2:g.48792310T>C | GRCh38 |
| NC_000023.10:g.48650717T>C , CM000685.1:g.48650717T>C | GRCh37 |
| NC_000023.9:g.48535661T>C | NCBI36 |
| NG_008846.2:g.10737T>C , LRG_559:g.10737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.350-13T>C | ENSP00000498550.1:n.350-13T>C | |
| ENST00000696450.1:c.599-13T>C | ENSP00000512637.1:n.599-13T>C | |
| ENST00000696451.1:c.350-13T>C | ENSP00000512638.1:n.350-13T>C | |
| ENST00000696452.1:c.350-13T>C | ENSP00000512639.1:n.350-13T>C | |
| ENST00000376670.9:c.599-13T>C MANE Select | ENSP00000365858.3:n.599-13T>C | |
| ENST00000651144.1:c.350-13T>C | ENSP00000498550.1:n.350-13T>C | |
| ENST00000376665.4:c.599-13T>C | ENSP00000365853.3:n.599-13T>C | |
| ENST00000376670.7:c.599-13T>C | ENSP00000365858.3:n.599-13T>C | |
| NM_002049.3:c.599-13T>C , LRG_559t1:c.599-13T>C | NP_002040.1:n.599-13T>C | |
| XM_011543897.1:c.599-13T>C | XP_011542199.1:n.599-13T>C | |
| XM_011543898.1:c.350-13T>C | XP_011542200.1:n.350-13T>C | |
| XM_011543897.2:c.599-13T>C | XP_011542199.1:n.599-13T>C | |
| XM_011543898.2:c.350-13T>C | XP_011542200.1:n.350-13T>C | |
| XM_024452363.1:c.350-13T>C | XP_024308131.1:n.350-13T>C | |
| NM_002049.4:c.599-13T>C MANE Select | NP_002040.1:n.599-13T>C |